Variant report

Variant	rs7012271
Chromosome Location	chr8:114317672-114317673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10096816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10103599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10107860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10108074	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs10447963	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs10447988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs10955650	0.82[JPT][hapmap];0.81[YRI][hapmap]
rs10955654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs10955655	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10955656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12542594	0.81[CHB][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap]
rs12545118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12548951	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.84[MKK][hapmap];0.82[TSI][hapmap];0.89[YRI][hapmap]
rs1382469	0.81[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap]
rs1402942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs1402944	0.81[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs1480459	0.84[ASW][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.91[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap]
rs1522059	0.81[YRI][hapmap]
rs1522060	0.81[YRI][hapmap]
rs1522061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1551959	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs1585720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs16892637	0.81[CHB][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap]
rs2127690	0.81[JPT][hapmap]
rs2177112	0.94[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.93[MKK][hapmap];0.90[TSI][hapmap];0.89[YRI][hapmap]
rs2219898	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs28522408	0.85[ASN][1000 genomes]
rs28637150	0.85[ASN][1000 genomes]
rs4242552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4320578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4333631	0.82[JPT][hapmap]
rs4370561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs4403438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs4433179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4437686	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.99[MKK][hapmap];1.00[YRI][hapmap]
rs6984847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs6996176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6996484	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7001577	0.83[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.87[LWK][hapmap];0.99[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap]
rs7002376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7002915	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs720405	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs720406	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs7812921	0.81[CHB][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap]
rs7818176	0.84[YRI][hapmap]
rs7826077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7833144	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs9642820	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs9643077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9643078	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs984990	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754581	chr8:114029421-114419106	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv831428	chr8:114102983-114320802	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv916637	chr8:114116303-114338450	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1022803	chr8:114180224-114354093	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7012271	CSMD3	cis	cerebellum	SCAN

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114317600-114318200	Enhancers	Cortex derived primary cultured neurospheres	brain

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